List of variants in gene CAPN3 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)	rs80338802	0.00014
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	rs121434544	0.00001
NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)	rs121434546	0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)	rs121434547	0.00001
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	rs863224965
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)	rs267606703
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)	rs80338803
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)	rs1555423217
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	rs121434545
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800

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